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Journal Abstract Search

198 related items for PubMed ID: 26733147

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  • 2. Cholestane-3β,5α,6β-triol: high levels in Niemann-Pick type C, cerebrotendinous xanthomatosis, and lysosomal acid lipase deficiency.
    Pajares S, Arias A, García-Villoria J, Macías-Vidal J, Ros E, de las Heras J, Girós M, Coll MJ, Ribes A.
    J Lipid Res; 2015 Oct; 56(10):1926-35. PubMed ID: 26239048
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  • 3. Cholestane-3β, 5α, 6β-triol: Further insights into the performance of this oxysterol in diagnosis of Niemann-Pick disease type C.
    Cooper JA, Church HJ, Wu HY.
    Mol Genet Metab; 2020 May; 130(1):77-86. PubMed ID: 32178982
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  • 6. A new simple and rapid LC-ESI-MS/MS method for quantification of plasma oxysterols as dimethylaminobutyrate esters. Its successful use for the diagnosis of Niemann-Pick type C disease.
    Boenzi S, Deodato F, Taurisano R, Martinelli D, Verrigni D, Carrozzo R, Bertini E, Pastore A, Dionisi-Vici C, Johnson DW.
    Clin Chim Acta; 2014 Nov 01; 437():93-100. PubMed ID: 25038260
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  • 7. Rapid Diagnosis of 83 Patients with Niemann Pick Type C Disease and Related Cholesterol Transport Disorders by Cholestantriol Screening.
    Reunert J, Fobker M, Kannenberg F, Du Chesne I, Plate M, Wellhausen J, Rust S, Marquardt T.
    EBioMedicine; 2016 Feb 01; 4():170-5. PubMed ID: 26981555
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  • 8. A sensitive and specific LC-MS/MS method for rapid diagnosis of Niemann-Pick C1 disease from human plasma.
    Jiang X, Sidhu R, Porter FD, Yanjanin NM, Speak AO, te Vruchte DT, Platt FM, Fujiwara H, Scherrer DE, Zhang J, Dietzen DJ, Schaffer JE, Ory DS.
    J Lipid Res; 2011 Jul 01; 52(7):1435-45. PubMed ID: 21518695
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  • 9. Metabolism of Non-Enzymatically Derived Oxysterols: Clues from sterol metabolic disorders.
    Griffiths WJ, Yutuc E, Abdel-Khalik J, Crick PJ, Hearn T, Dickson A, Bigger BW, Hoi-Yee Wu T, Goenka A, Ghosh A, Jones SA, Covey DF, Ory DS, Wang Y.
    Free Radic Biol Med; 2019 Nov 20; 144():124-133. PubMed ID: 31009661
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  • 11. Oxysterol/chitotriosidase based selective screening for Niemann-Pick type C in infantile cholestasis syndrome patients.
    Degtyareva AV, Proshlyakova TY, Gautier MS, Degtyarev DN, Kamenets EA, Baydakova GV, Rebrikov DV, Zakharova EY.
    BMC Med Genet; 2019 Jul 11; 20(1):123. PubMed ID: 31296176
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  • 13. Oxysterol species generated by auto-oxidation in subclinical hypothyroidism.
    Ünlütürk U, Savaş M, Oğuz SH, Samadi A, Fırlatan B, Yüce D, Lay İ, Gürlek A.
    Clin Biochem; 2021 Jul 11; 93():73-79. PubMed ID: 33861988
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  • 14. Unravelling new pathways of sterol metabolism: lessons learned from in-born errors and cancer.
    Wang Y, Griffiths WJ.
    Curr Opin Clin Nutr Metab Care; 2018 Mar 11; 21(2):90-96. PubMed ID: 29227331
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  • 15. Determination of serum cholestane-3β,5α,6β-triol by gas chromatography-mass spectrometry for identification of Niemann-Pick type C (NPC) disease.
    Kannenberg F, Nofer JR, Schulte E, Reunert J, Marquardt T, Fobker M.
    J Steroid Biochem Mol Biol; 2017 May 11; 169():54-60. PubMed ID: 26940355
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  • 16. High level of oxysterols in neonatal cholestasis: a pitfall in analysis of biochemical markers for Niemann-Pick type C disease.
    Polo G, Burlina A, Furlan F, Kolamunnage T, Cananzi M, Giordano L, Zaninotto M, Plebani M, Burlina A.
    Clin Chem Lab Med; 2016 Jul 01; 54(7):1221-9. PubMed ID: 26650075
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  • 17. The impact of biomarkers analysis in the diagnosis of Niemann-Pick C disease and acid sphingomyelinase deficiency.
    Deodato F, Boenzi S, Taurisano R, Semeraro M, Sacchetti E, Carrozzo R, Dionisi-Vici C.
    Clin Chim Acta; 2018 Nov 01; 486():387-394. PubMed ID: 30153451
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  • 19. Selective screening of Niemann-Pick type C Brazilian patients by cholestane-3β,5α,6β-triol and chitotriosidase measurements followed by filipin staining and NPC1/NPC2 gene analysis.
    Ribas GS, Souza HM, de Mari J, Deon M, Mescka C, Saraiva-Pereira ML, Kessler R, Trapp F, Michelin K, Burin M, Vargas CR, Giugliani R.
    Clin Chim Acta; 2016 Aug 01; 459():57-62. PubMed ID: 27234403
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  • 20. Rapid screening for lipid storage disorders using biochemical markers. Expert center data and review of the literature.
    Voorink-Moret M, Goorden SMI, van Kuilenburg ABP, Wijburg FA, Ghauharali-van der Vlugt JMM, Beers-Stet FS, Zoetekouw A, Kulik W, Hollak CEM, Vaz FM.
    Mol Genet Metab; 2018 Feb 01; 123(2):76-84. PubMed ID: 29290526
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